Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21022 | chr6 | 93410774 | G | A |
c.559C>T
|
p.Gln187Ter
|
- | 3.5 |
|
B | |
| 31766 | chr6 | 93410903 | C | A |
c.430G>T
|
p.Val144Leu
|
- | 3.0 |
|
B | |
| 2377 | chr6 | 93410929 | C | A |
c.404G>T
|
p.Gly135Val
|
- | 3.0 |
|
B | |
| 15245 | chr6 | 93410985 | CAGTACTCCAGGA | C |
c.336_347del
|
p.Pro113_Leu116del
|
- | 3.0 |
|
B | |
| 593 | chr6 | 93411133 | G | A |
c.200C>T
|
p.Pro67Leu
|
3.0 |
|
B | ||
| 12879 | chr6 | 93411164 | C | T |
c.169G>A
|
p.Glu57Lys
|
3.0 |
|
B | ||
| 25155 | chr6 | 93414694 | A | G |
c.162+9T>C
|
-
|
- | 3.0 |
|
B | |
| 5691 | chr6 | 93414722 | A | C |
c.143T>G
|
p.Ile48Ser
|
- | 3.0 |
|
B | |
| 5016 | chr6 | 93419355 | G | T |
c.-14C>A
|
-
|
3.0 |
|
B | ||
| 5736 | chr6 | 97186567 | G | C |
c.2163C>G
|
p.Phe721Leu
|
3.0 |
|
B | ||
| 20327 | chr6 | 98837682 | GAA | G |
c.*1487_*1488del
|
-
|
2.5 |
|
B | ||
| 3531 | chr6 | 99377430 | T | A |
c.442A>T
|
p.Met148Leu
|
- | 3.0 |
|
B | |
| 5102 | chr6 | 99934481 | GA | G |
c.623del
|
p.Phe208SerfsTer5
|
3.0 |
|
B | ||
| 34508 | chr6 | 100448561 | C | T |
c.661G>A
|
p.Ala221Thr
|
3.0 |
|
B | ||
| 4832 | chr6 | 100631122 | A | T |
c.4208+6T>A
|
-
|
- | 3.0 |
|
B | |
| 28479 | chr6 | 100718200 | G | T |
c.1954C>A
|
p.Pro652Thr
|
- | 3.0 |
|
B | |
| 19466 | chr6 | 102055556 | CA | C |
c.2546del
|
p.Asn849ThrfsTer14
|
3.0 |
|
B | ||
| 5177 | chr6 | 105026349 | G | A |
c.250G>A
|
p.Glu84Lys
|
- | 3.0 |
|
B | |
| 22316 | chr6 | 106087923 | G | C |
c.43-278G>C
|
-
|
- | 3.0 |
|
B | |
| 20222 | chr6 | 106087937 | CTT | C |
c.43-252_43-251del
|
-
|
3.0 |
|
B |